MASTERPOST: Neurodevelopmental Disorders & Hypermobility/ Connective Tissue Disorders Research
Here is a compilation of links about the connection between hypermobility/connective tissue disorders and neurodevelopmental conditions. The abstract of each paper be read by clicking each "Abstract" button.
Jump to:ADHD
- Benign Joint Hypermobility Syndrome in Patients with Attention Deficit/Hyperactivity Disorders - A Case Study (2009) (PDF Link)
Objectives: In this study, we determined whether attention deficit/hyperactivity disorder (ADHD) is accompanied by benign joint hypermobility syndrome (BJHS) and evaluated the incidence of BJHS in patients with ADHD.
Results: Benign joint hypermobility syndrome was found in 31.5% of the patients with ADHD and 13.9% of the individuals in the control group, and the difference was statistically significant (p=0.05). There were no statistically significant differences between the groups in FPS-R or Likert Pain Scale scores (p>0.05). A statistically significant increase was observed in the Beighton total score in ADHD patients compared with the control group (p=0.004).
Conclusion: The results of this study support that joint hypermobility may be associated with ADHD, and this condition should be taken into consideration in assessing the complaints of patients with ADHD-related musculoskeletal symptoms. - Evaluation of the Prevalence of Joint Laxity in Children with Attention Deficit/Hyperactivity Disorder - A Case Study (2013, Free Article)
Objective: The purpose of this study was to assess the prevalence of joint laxity in children with attention deficit hyperactivity disorder (ADHD).
Result: Joint laxity was discovered in 74.4% of children with attention deficit hyperactivity disorder and in 12.8% of healthy controls.
Conclusion: The prevalence of benign joint hypermobility syndrome was high in children with attention deficit hyperactivity disorder, which shows a new basis for further studies. - Pilot Study of Attention Deficit Hyperactivity Disorder-related Behaviors in a Pediatric Ehlers-Danlos Syndrome-Hypermobility type Population (2015, Free Article)
Introduction: Clinical observation in the Cincinnati Children’s Hospital Medical Center (CCHMC) Connective Tissue Clinic as well as recent published research suggests a link between joint hypermobility and ADHD. However, existing studies are few in number and of limited clinical usefulness. The primary goal of this pilot study was to examine the proposed relationship between Ehlers-Danlos syndrome-Hypermobility type (EDS-HT) and attention-related behaviors in order to assess whether further, larger studies might be warranted.
Results: Compared with controls, cases showed significantly higher t-scores on the Sluggish Cognitive Tempo (SCT) scale (p=0.006), and scores on the SCT scale correlated highly with scores on the Attention Problems syndrome scale (R=0.8298) and ADHD Problems DSM-oriented scale (R=0.6981). When scores were dichotomized, the two attention-related CBCL scales were among the scales that showed the largest difference in proportion of cases with t-scores = 65 (ADHD Problems DSM-oriented scale, p=0.147; Attention Problems syndrome scale, p=0.333).
Conclusion: The significant findings in the SCT scale and observed trends in other attention-related scales indicate that larger future studies are needed to further elucidate the relationship between EDS-HT and attention problems. An association between EDS-HT and ADHD may influence clinical management of patients with both disorders.
Autism
- Asperger's Syndrome and Ligamentous Laxity - A Case Study (1990) (PDF Link)
Aims: Abnormalities of gross motor function in children with autism are well known to clinicians but have not received much empirical documentation and, with the exception of stereotypies, are not among its diagnostic criteria. We recorded the characteristics of gait and prevalence of toe walking, the range of passive joint mobility, and age at walking in children with DSM IV autism spectrum disorders (ASDs) and in age- and gender-matched typically developing peers (mean age 4 years 6 months, range 22 months–10 years 9 months).
Results: Children with ASDs had significantly greater joint mobility (p < .002), more gait abnormalities (p < .0001), and on average walked 1.6 months later than their non-autistic peers.
Interpretation: This study indicates that attention should be directed to motor abnormalities as well as sociability, communication, and restricted and repetitive behaviors in individuals with ASDs. Motor deficits add to children’s other handicaps. They indicate that ASDs affect a broader range of central nervous system circuitry than often appreciated. - Autism and Ehlers-Danlos syndrome - A Case Study (1992) (PDF Link)
Presents the case report of a 13-yr-old autistic boy with a concomitant connective tissue disorder, Ehlers-Danlos syndrome. This, along with another case noted by P. Fehlow and A. Tennstedt (see record 1986-14545-001), provides a reason to speculate about possible etiological links between connective tissue disease and autistic symptomatology. Central nervous system developmental abnormalities in Ehlers-Danlos syndrome are noted.
- High‐functioning autistic disorder with Ehlers‐Danlos syndrome - A Case Study (2011, Free Article)
EHLERS‐DANLOS SYNDROME (EDS) represents a group of genetically heterogeneous connective tissue disorders. Recent articles have suggested associations between connective tissue disorders and autistic disorders.1, 2 We encountered an adolescent with EDS and autistic disorder. The patient was a 17‐year‐old boy at the time of writing. He gave the authors informed consent to publish this letter.
- Abnormalities of joint mobility and gait in children with autism spectrum disorders (2014) (PDF Link)
Aims: Abnormalities of gross motor function in children with autism are well known to clinicians but have not received much empirical documentation and, with the exception of stereotypies, are not among its diagnostic criteria. We recorded the characteristics of gait and prevalence of toe walking, the range of passive joint mobility, and age at walking in children with DSM IV autism spectrum disorders (ASDs) and in age- and gender-matched typically developing peers (mean age 4 years 6 months, range 22 months–10 years 9 months).
Results: Children with ASDs had significantly greater joint mobility (p < .002), more gait abnormalities (p < .0001), and on average walked 1.6 months later than their non-autistic peers.
Interpretation: This study indicates that attention should be directed to motor abnormalities as well as sociability, communication, and restricted and repetitive behaviors in individuals with ASDs. Motor deficits add to children’s other handicaps. They indicate that ASDs affect a broader range of central nervous system circuitry than often appreciated. - Autism Spectrum Disorders and Ehlers-Danlos Syndrome Hypermobility-Type : Similarities in clinical presentation(2016, Free Article)
Autism Spectrum Disorder (ASD) is an etiologically and clinically heterogeneous group of neurodevelopmental conditions, characterized by impairments in communication, social interaction and restricted repetitive and stereotyped behaviors. Ehlers-Danlos Syndrome hypermobility-type (EDS-HT; also known as Joint Hypermobility Syndrome), is the most common hereditary disorder of the connective tissue. It is characterized by joint hypermobility and a wide range of articular and non-articular manifestations, including disturbances in different systems due to the widespread distribution of collagen in the body. The clinical presentations of ASD and EDS-HT share several similar features, and although literature that relates these two conditions is scarce, it suggests that a connective tissue disorder may contribute to autistic symptomatology. The present work reviews the similarities in the clinical presentation of both conditions. In addition, the case of a 12-year-old boy diagnosed with ASD in which autistic manifestations overlap and/or might be explained by the presence of EDS-HT is presented as illustration.
- A Cohort Study Comparing Women with Autism Spectrum Disorder with and without Generalized Joint Hypermobility (2018) (PDF Link)
Reports suggest comorbidity between autism spectrum disorder (ASD) and the connective tissue disorder, Ehlers-Danlos syndrome (EDS). People with EDS and the broader spectrum of Generalized Joint Hypermobility (GJH) often present with immune- and endocrine-mediated conditions. Meanwhile, immune/endocrine dysregulation is a popular theme in autism research. We surveyed a group of ASD women with/without GJH to determine differences in immune/endocrine exophenotypes. ASD women 25 years or older were invited to participate in an online survey. Respondents completed a questionnaire concerning diagnoses, immune/endocrine symptom history, experiences with pain, and seizure history. ASD women with GJH (ASD/GJH) reported more immune- and endocrine-mediated conditions than their non-GJH counterparts (p = 0.001). Autoimmune conditions were especially prominent in the ASD/GJH group (p = 0.027). Presence of immune-mediated symptoms often co-occurred with one another (p < 0.001–0.020), as did endocrine-mediated symptoms (p < 0.001–0.045), irrespective of the group. Finally, the numbers of immune- and endocrine-mediated symptoms shared a strong inter-relationship (p < 0.001), suggesting potential system crosstalk. While our results cannot estimate comorbidity, they reinforce concepts of an etiological relationship between ASD and GJH. Meanwhile, women with ASD/GJH have complex immune/endocrine exophenotypes compared to their non-GJH counterparts. Further, we discuss how connective tissue regulates the immune system and how the immune/endocrine systems in turn may modulate collagen synthesis, potentially leading to higher rates of GJH in this subpopulation.
- Autism, Joint Hypermobility-Related Disorders and Pain (2018, Free Article)
Autism Spectrum Disorder (ASD) and Joint Hypermobility-Related Disorders are blanket terms for two etiologically and clinically heterogeneous groups of pathologies that usually appears in childhood. These conditions are seen by different medical fields, such as psychiatry in the case of ASD, and musculoskeletal disciplines and genetics in the case of hypermobility-related disorders. Thus, a link between them is rarely established in clinical setting, despite a scarce but growing body of research suggesting that both conditions co-occur more often than expected by chance. Hypermobility is a frequent sign of hereditary disorders of connective tissue (e.g., Ehlers-Danlos syndromes, Marfan syndrome), in which the main characteristic is the multisystem fragility that prone to proprioceptive and motor coordination dysfunction and hence to trauma and chronic pain. Considering the high probability that pain remains disregarded and untreated in people with ASD due to communication and methodological difficulties, increasing awareness about the interconnection between ASD and hypermobility-related disorders is relevant, since it may help identify those ASD patients susceptible to chronic pain.
- Immune, Autonomic, and Endocrine Dysregulation in Autism and Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorders Versus Unaffected Controls (2019, Free Article)
Background: A growing body of literature suggests etiological overlap between Ehlers-Danlos syndrome (EDS)/hypermobility spectrum disorders (HSD) and some cases of autism, although this relationship is poorly delineated. In addition, immune, autonomic, and endocrine dysregulation are reported in both conditions and may be relevant to their respective etiologies.
Aims: To study symptom overlap in these two comorbid spectrum conditions.
Outcomes and Results: The autism group reported similar though less severe symptomology as the EDS/HSD group, especially in areas of immune/autonomic/endocrine dysregulation, connective tissue abnormalities (i.e., skin, bruising/bleeding), and chronic pain. EDS/HSD mothers with autistic children reported more immune symptoms than EDS/HSD mothers without, suggesting the maternal immune system could play a heritable role in these conditions (p = 0.0119).
Conclusions and Implications: These data suggest that EDS/HSD and autism share aspects of immune/autonomic/endocrine dysregulation, pain, and some tissue fragility, which is typically more severe in the former. This overlap, as well as documented comorbidity, suggests some forms of autism may be hereditary connective tissue disorders (HCTD).
Multiple Neurodevelopmental Disorders
- Joint Hypermobility and Autonomic Hyperactivity: Relevance to Neurodevelopmental Disorders (2014) (PDF Link)
Objective: To test the hypothesis that Joint hypermobility and autonomic dysfunction are over-expressed within neurodevelopmental disorders. Joint hypermobility is a widespread poorly recognized connective tissue condition with affected individuals overrepresented among panic and anxiety disorders, irritable bowel syndrome, fibromyalgia, and chronic fatigue. The relevance of hypermobility to neuropsychiatric disorders of developmental origin is currently unknown, despite anecdotal case reports and clinical suspicion of a link. Autonomic nervous system dysregulation, typically postural tachycardia syndrome is often found in hypermobile individuals. Interestingly, differences in amygdala and superior temporal cortex anatomy have been reported in hypermobile populations and functional abnormalities in patients with autism.
Results: The neurodevelopmental cohort had a mean age of 34.6 years (27 male). Nineteen had Attention Deficit Hyperactivity Disorder (ADHD), 4 Autistic Spectrum Disorder (ASD), 1 Tourette Syndrome (TS) and the remainder combinations of ADHD, ASD and TS. Nine had co-morbid affective disorder. Eighteen patients (48.6%) were classified as hypermobile compared to 67/204(32.7%) in the general psychiatric group (p=0.048) and 3/29(10.3%) in healthy controls (p=0.007) and this prevalence was also significantly higher that reported in a large general population cohort (1156/6022, 19.19%). Mean autonomic dysfunction score was significantly higher in the neurodevelopmental cohort compared to controls. This effect was seen across all sub-scales of the ASQoLS. Total autonomic dysfunction score did not differ significantly between neurodevelopmental cohort and the general psychiatric group, however neurodevelopmental disorder patients had significantly higher scores on orthostatic and gastrointestinal disturbance subscales.
Conclusion: We demonstrate for the first time that rates of hypermobility and symptoms of autonomic dysfunction are particularly high in adults with neurodevelopmental diagnoses. It is likely that the importance of hypermobility and autonomic dysfunction to the generation and maintenance of psychopathology in neurodevelopmental disorders is poorly appreciated. Work underway(autonomic testing, fMRI) will test the hypothesis that autonomic reactivity and interoceptive sensitivity predispose to the expression of psychiatric symptoms, particularly anxiety. It is further hypothesized that inefficient neural co-ordination of efferent autonomic drive with imprecise interoceptive representations may be amplified in hypermobile individuals. In hypermobility, this mechanism might explain increased vulnerability to stress sensitive and developmental neuropsychiatric conditions. - Joint hypermobility and the heritable disorders of connective tissue: clinical and empirical evidence of links with psychiatry (2015) (PDF Link)
Objective: The heritable disorders of connective tissue (HDCTs) are a group of genetic disorders affecting connective tissue matrix proteins. Fragility, laxity of tissues and joint hypermobility (JH) are commons features of HDCT for which the prognosis may range from benign to life threatening. JH and HDCTs, especially joint hypermobility syndrome, Ehlers–Danlos syndromes and Marfan syndrome, have been associated with psychiatric symptomatology. We explored the existing knowledge concerning this association in order to provide an overview of mental disorders linked to JH/HDCT, as well as the hypotheses proposed to explain such association.
Results: Psychiatric conditions in which there is some evidence of an association with JH/HDCT are anxiety disorders, depression, schizophrenia, neurodevelopmental disorders (autism, attention deficit/hyperactivity disorder, and developmental coordination disorder), eating disorders, personality disorders and substance use/misuse.
Conclusion: Despite the need of more research, the available data highlight the importance of examining psychiatric symptoms in those affected by JH/HDCT and the importance of providing interventions with a multidisciplinary approach. The relationship between JH/HDCT and mental disorders merits further attention in order to improve current knowledge and clarify a possible common etiology. - Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type: Update and perspectives (2015) (PDF Link)
In the last decade, increasing attention has been devoted to the extra‐articular and extra‐cutaneous manifestations of joint hypermobility syndrome, also termed Ehlers–Danlos syndrome, hypermobility type (i.e., JHS/EDS‐HT). Despite the fact that the current diagnostic criteria for both disorders remain focused on joint hypermobility, musculoskeletal pain and skin changes, medical practice and research have started investigating a wide spectrum of visceral, neurological and developmental complications, which represent major burdens for affected individuals. In particular, children with generalized joint hypermobility often present with various neurodevelopmental issues and can be referred for neurological consultation.
It is common that investigations in these patients yield negative or inconsistent results, eventually leading to the exclusion of any structural neurological or muscle disorder. In the context of specialized clinics for connective tissue disorders, a clear relationship between generalized joint hypermobility and a characteristic neurodevelopmental profile affecting coordination is emerging. The clinical features of these patients tend to overlap with those of developmental coordination disorder and can be associated with learning and other disabilities. Physical and psychological consequences of these additional difficulties add to the chief manifestations of the pre‐existing connective tissue disorder, affecting the well‐being and development of children and their families. In this review, particular attention is devoted to the nature of the link between joint hypermobility, coordination difficulties and neurodevelopmental issues in children. Presumed pathogenesis and management issues are explored in order to attract more attention on this association and nurture future clinical research. - Phenotypic variability in developmental coordination disorder: Clustering of generalized joint hypermobility with attention deficit/hyperactivity disorder, atypical swallowing and narrative difficulties (2015) (PDF Link)
Developmental coordination disorder (DCD) is a recognized childhood disorder mostly characterized by motor coordination difficulties. Joint hypermobility syndrome, alternatively termed Ehlers–Danlos syndrome, hypermobility type (JHS/EDS‐HT), is a hereditary connective tissue disorder mainly featuring generalized joint hypermobility (gJHM), musculoskeletal pain, and minor skin features. Although these two conditions seem apparently unrelated, recent evidence highlights a high rate of motor and coordination findings in children with gJHM or JHS/EDS‐HT. Here, we investigated the prevalence of gJHM in 41 Italian children with DCD in order to check for the existence of recognizable phenotypic subgroups of DCD in relation to the presence/absence of gJHM.
Nineteen (46%) children showed gJHM and 22 (54%) did not. Children with DCD and gJHM showed a significant excess of frequent falls (95 vs. 18%), easy bruising (74 vs. 0%), motor impersistence (89 vs. 23%), sore hands for writing (53 vs. 9%), attention deficit/hyperactivity disorder (89 vs. 36%), constipation (53 vs. 0%), arthralgias/myalgias (58 vs. 4%), narrative difficulties (74 vs. 32%), and atypical swallowing (74 vs. 18%).
This study confirms the non‐causal association between DCD and gJHM, which, in turn, seems to increase the risk for non‐random additional features. The excess of language, learning, and swallowing difficulties in patients with DCD and gJHM suggests a wider effect of lax tissues in the development of the nervous system. - Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers–Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised (2015) (PDF Link)
Psychological distress is a known feature of generalized joint hypermobility (gJHM), as well as of its most common syndromic presentation, namely Ehlers–Danlos syndrome, hypermobility type (a.k.a. joint hypermobility syndrome — JHS/EDS‐HT), and significantly contributes to the quality of life of affected individuals. Most published articles dealt with the link between gJHM (or JHS/EDS‐HT) and anxiety‐related conditions, and a novel generation of studies is emerging aimed at investigating the psychopathologic background of such an association. In this paper, literature review was carried out with a semi‐systematic approach spanning the entire spectrum of psychopathological findings in gJHM and JHS/EDS‐HT.
Interestingly, in addition to the confirmation of a tight link between anxiety and gJHM, preliminary connections with depression, attention deficit (and hyperactivity) disorder, autism spectrum disorders, and obsessive–compulsive personality disorder were also found. Few papers investigated the relationship with schizophrenia with contrasting results. The mind–body connections hypothesized on the basis of available data were discussed with focus on somatotype, presumed psychopathology, and involvement of the extracellular matrix in the central nervous system. The hypothesis of positive Beighton score and alteration of interoceptive/proprioceptive/body awareness as possible endophenotypes in families with symptomatic gJHM or JHS/EDS‐HT is also suggested. Concluding remarks addressed the implications of the psychopathological features of gJHM and JHS/EDS‐HT in clinical practice. - Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers–Danlos syndrome or hypermobility syndrome and their siblings (2016, Free Article)
Background: To assess the risk of psychiatric disorders in Ehlers-Danlos syndrome (EDS) and hypermobility syndrome.
Results: EDS was associated with ASD: risk ratio (RR) 7.4, 95 % confidence interval (95 % CI) 5.2–10.7; bipolar disorder: RR 2.7, CI 1.5–4.7; ADHD: RR 5.6, CI 4.2–7.4; depression: RR 3.4, 95 % CI 2.9–4.1; and attempted suicide: RR 2.1, 95 % CI 1.7–2.7, but not with suicide or schizophrenia. EDS siblings were at increased risk of ADHD: RR 2.1, 95 % CI 1.4–3.3; depression: RR 1.5, 95 % CI 1.1–1.8; and suicide attempt: RR 1.8, 95 % CI 1.4–2.3. Similar results were observed for individuals with hypermobility syndrome and their siblings.
Conclusions: Individuals with EDS and hypermobility syndrome are at increased risks of being diagnosed with psychiatric disorders. These risk increases may have a genetic and/or early environmental background as suggested by evidence showing that siblings to patients have elevated risks of certain psychiatric disorders. - A connective tissue disorder may underlie ESSENCE problems in childhood (2017) (PDF Link)
Background: Ehlers-Danlos syndrome hypermobility type, also known as Joint Hypermobility Syndrome (EDS-HT/JHS), is the most common hereditary disorder of the connective tissue (HDCT). It is characterized by tissue fragility, joint hypermobility and a wide range of articular and non-articular manifestations, which often appear in infancy. The clinical picture of EDS-HT/JHS is poorly known by the medical community, as is the presence of “ESSENCE” (Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations) problems in affected children.
Aim: The present work reviews the clinical and empirical evidence for ESSENCE difficulties in children with EDS-HT/JHS.
Results: Motor abnormality, hyperactivity/hypoactivity, inattention, speech/language, social interaction, behavioral, sleep, feeding and emotional problems are ESSENCE difficulties for which there is some evidence of an association with EDS-HT/JHS.
Conclusion: Children with EDS-HT/JHS present ESSENCE problems that often coexist and tend to be recognized before the HDCT. Clinicians encountering children with ESSENCE problems should consider the possibility of an underlying HDCT such as EDS-HT/JHS, probably influencing neurodevelopmental attributes in a subgroup of children. Awareness of these interconnected clinical problems might help improve early referral, diagnosis and treatment of EDS-HT/JHS. - Joint hypermobility in young children: Exploring associations with behavioral profiles (2017) (No Free Article Found)
Joint Hypermobility (JH) describes excessive movement in the normal plane of movement—in lay terms, “double-jointedness.” JH is common among children, occurring in about 8% - 39% of the population (Tofts, Elliott, Munns, Pacey, & Sillence, 2009) and is often associated, in older populations, with psychological symptoms such as anxiety, depression, panic disorder, and attention deficit hyperactive disorder (Bulbena, Pailhez, Bulbena-Cabre, MallorquiBague, & Baeza-Velasco, 2015). While there are numerous studies focusing upon the associations between JH and various psychological symptoms in adolescents and adults, there are still few studies that explore possible associations between JH and wide-range behavioral and psychological implications in younger children (Smith, et al., 2014). Given the statistically significant associations in adolescents and adults between JH symptoms and anxiety, panic, obsessive compulsive, and depressive disorders, and other psychiatric symptoms (Smith et al., 2014), and since JH is more prevalent in children than in adolescents and adults (Smith et al., 2014; Tofts et al., 2009), it was hypothesized that JH would be associated with behavioral profiles that may create problems for young children.
- Psychiatric and psychological aspects in the Ehlers–Danlos syndromes (2017, Free Article)
There is increasing amount of evidence pointing toward a high prevalence of psychiatric conditions among individuals with hypermobile type of Ehlers–Danlos syndrome (JHS/hEDS). A literature review confirms a strong association between anxiety disorders and JHSh/hEDS, and there is also limited but growing evidence that JHSh/hEDS is also associated with depression, eating, and neuro‐developmental disorders as well as alcohol and tobacco misuse. The underlying mechanisms behind this association include genetic risks, autonomic nervous system dysfunction, increased exteroceptive and interoceptive mechanisms and decreased proprioception. Recent neuroimaging studies have also shown an increase response in emotion processing brain areas which could explain the high affective reactivity seen in JHS/hEDS. Management of these patients should include psychiatric and psychological approaches, not only to relieve the clinical conditions but also to improve abilities to cope through proper drug treatment, psychotherapy, and psychological rehabilitation adequately coupled with modern physiotherapy. A multidimensional approach to this “neuroconnective phenotype” should be implemented to ensure proper assessment and to guide for more specific treatments. Future lines of research should further explore the full dimension of the psychopathology associated with JHS/hEDS to define the nature of the relationship. © 2017 Wiley Periodicals, Inc.
- A possible connection between childhood pain, joint hypermobility and Neurodevelopmental disorders (2018) (PDF Link)
We read with interest the paper “A case report and literature review of autism and attention deficit hyperactivity disorder in paediatric chronic pain” by Wiwe Lipsker et al in Acta Paediatrica (1) and would like to add some further paediatric aspects. The authors discussed the importance of adopting a broad paediatric and neuropsychiatric perspective and screening for neurodevelopmental comorbidities in children with chronic pain without any identified cause. Their informative case presentation was a six-year-old girl who had experienced chronic pain from a very young age. This had mainly been in her joint and muscles, combined with headache, and her joints were hypermobile. Her parents had visited different clinics and the medical work-up had been extensive. A tertiary pain clinic strongly suspected both autism and attention deficit hyperactivity disorder (ADHD) and these diagnoses were subsequently confirmed...
- Exploring relationships between joint hypermobility and neurodevelopment in children (4–13 years) with hereditary connective tissue disorders and developmental coordination disorder (2018) (PDF Link)
Joint hypermobility (JH) is a common, though largely ignored physical trait with increasing clinical reverberations. A few papers suggest a link between JH and selected neurodevelopmental disorders, such as developmental coordination disorder (DCD). JH is also the hallmark of various hereditary connective tissue disorders (HCTDs). Children with HCTDs may present abnormal neurodevelopment but its manifestations remain undetermined.
This study examined 23 children (group 1), aged 4–13 years, with different HCTDs (i.e., 19 with hypermobile Ehlers‐Danlos syndrome (EDS)/hypermobility spectrum disorder, 3 with molecularly confirmed classical EDS, and 1 with Loeys‐Dietz syndrome type 1 due to TGFBR2 mutation) and 23, age‐ and sex‐matched children with DCD (group 2). All underwent 14 different psychometric tests exploring motor, cognitive, executive‐attentive, and emotional‐behavior features.
In group 1, 30%, 22%, and 13% patients presented DCD (with or without dysgraphia), learning disabilities, and attention deficit‐hyperactivity disorder, respectively. None had cognitive delay. In group 2, 17% patients presented generalized JH and none had HCTDs. DCD children presented more motor and coordination troubles than HCTDs patients, while quality of life of children with HCTDs resulted more deteriorated due to somatic manifestations and behavioral traits.
This study presents the full overview of neurodevelopmental attributes in HCTDs, and compares with standardized tools the neurodevelopmental profile of children with DCD and HCTDs. While the high rate of neurodevelopmental comorbidities in HCTDs deserves attention, the impact of a dysfunctional connective tissue in children with a primary diagnosis of DCD needs more research. - Generalised joint hypermobility and neurodevelopmental traits in a non-clinical adult population (2018, Free Article)
Background: Generalised joint hypermobility (GJH) is reportedly overrepresented among clinical cases of attention deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and developmental coordination disorder (DCD). It is unknown if these associations are dimensional and, therefore, also relevant among non-clinical populations.
Aims: To investigate if GJH correlates with sub-syndromal neurodevelopmental symptoms in a normal population.
Results: In total, 887 individuals met our entry criteria. We found no associations between GJH and sub-syndromal symptoms of ADHD, ASD or DCD.
Conclusions: Although GJH is overrepresented in clinical cases with neurodevelopmental disorders, such an association seems absent in a normal population. Thus, if GJH serves as a biomarker cutting across diagnostic boundaries, this association is presumably limited to clinical populations.
